hereditary angioedema
Introduction
Introduction to hereditary angioedema Hereditary angioedema (hereditary angioedema) is a disease with a family history and repeated soft localized edema of soft tissue. It is autosomal dominant, and its seizures are related to minor trauma, mood swings, infections, sudden changes in temperature, and menstruation and estrogen-type contraceptives. basic knowledge The proportion of illness: the incidence rate is about 0.006%-0.008%, mostly related to allergies Susceptible people: no special people Mode of infection: non-infectious Complications: abdominal pain, diarrhea
Cause
Causes of hereditary angioedema
(1) Causes of the disease
Hereditary angioedema (hereditary angioedema) is an autosomal dominant genetic disease caused by a decrease in C1 lipase inhibitor (a type of 2 globulin) or a functional defect in the serum of the patient, resulting in excessive activation of C1 and cleavage of C4 and C2. Out of control, the resulting complement kinin increased, resulting in increased microvascular permeability, causing edema.
(two) pathogenesis
The disease is caused by decreased C1 esterase inhibitor level (85%) or dysfunction (15%), which is autosomal dominant, mainly due to lack of C1 esterase inhibitor (85%) or no function (15%). ), the amount of activated C1-(esterase) produced in serum is too high, enhances vascular permeability, affects the formation of Hageman clotting factor, and causes edema and bleeding of skin, respiratory and gastrointestinal mucosa.
Prevention
Hereditary angioedema prevention
Short-term prevention is best done with androgens like stanozolol or danazol, which can reduce the production of C1 inhibitors, which have side effects on women and children, so these drugs can not be used for a long time, but intermittently use small doses The patient can be relatively asymptomatic, and Ipsirlon-aminocaproic acid (12-18 g/day) or supercaproic acid is less effective than male hormone.
Strengthen care and nutrition: to improve the patient's resistance and immunity.
Prevention of infection: attention should be paid to isolation to minimize contact with pathogens.
Complication
Hereditary angioedema complications Complications, abdominal pain, diarrhea
Common complications of the disease: often involving the eyelids, lips, tongue, external genitals, hands, feet and other parts, with early digestive tract or respiratory symptoms.
Symptom
Hereditary angioedema symptoms Common symptoms Traveler edema Body low edema Oedema Angioedema Nausea bloating Abdominal pain Diarrhea Throat edema Itching Difficulty
Repeated episodes of acute skin and mucous membrane edema.
1 repeated episodes of face, neck, trunk and limbs subcutaneous edema, often occur in local minor trauma, sudden onset, local pain, no itching, no obvious flushing, generally lasting 48 to 72 hours after natural relief .
2 can occur in the throat, respiratory tract mucosal edema, breathing difficulties, hoarseness, suffocation, as well as abdominal pain, diarrhea, nausea, vomiting and other symptoms.
Examine
Examination of hereditary angioedema
1 serum C1 lipase inhibitor determination: low content, a small number (10% to 20%) can also be normal high, but the electrophoretic mobility slowed down.
2C4 and C2 measurements: C4 and C2 were significantly reduced at the time of onset; C2 was normal and C4 was still low at non-onset.
The 350% complement hemolysis unit (CH50) is reduced.
Diagnosis
Diagnosis and diagnosis of hereditary angioedema
[Diagnostic points]
1. Infancy onset, often family history.
2. Occurs in the face, limbs, gastrointestinal and external genital areas.
3. Sudden occurrence of localized, non-inflammatory and non-depressed subcutaneous edema, the skin surface is skin color, no symptoms, swelling for more than 1 to 3 days, without urticaria.
4. Often accompanied by recurrent abdominal cramps, vomiting and bloating, watery diarrhea, abdominal tenderness, but no muscle rigidity and rebound tenderness.
5. Occasionally, suffocation may result from edema of the throat.
6. Laboratory examination: C1 esterase inhibitor (C1inh) is lacking or decreasing, and serum C2 and C4 levels are also low.
Most patients have a family history, manifested as recurrent skin, respiratory and digestive tract mucosal localized non-depressed edema, such as eyelid edema, lip edema, laryngeal edema or abdominal pain; obvious self-limiting, 48-72h natural Relieve; the appearance of edema can be induced by mood fluctuations, menstruation, fever and trauma; accompanied by nausea, vomiting and abdominal pain, can be caused by suffocation of throat edema, if not treated, the mortality rate can be as high as 28%; without itching and urticaria Antihistamines and corticosteroids are ineffective.
The disease should be distinguished from urticaria. According to the deep edema of the skin, there is no fever, the local lymph nodes are not swollen, and there is no heat or tenderness in the skin lesions. The sudden onset of the disease can be diagnosed and can be combined with erysipelas or Cellulitis is differentiated.
